Introduction

Here you’ll find answers to some of the questions that parents often have about this condition. Additional resources are listed
at the bottom of the page. Diagnosis and management information can be found in Spinal Muscular Atrophy module, which is written for primary care clinicians but also may be of help to parents and family members.

What is spinal muscular atrophy and what causes it?

Spinal muscular atrophy (SMA) is an inherited disorder which causes early death of motor neurons leading to muscle weakening.

What are the symptoms of spinal muscular atrophy?

There is a spectrum of how severely children with SMA are affected. Symptoms will depend on SMA subtype and patient age. Infants
with severe SMA are very weak and have difficulty swallowing and breathing. SMA may also be diagnosed in toddlers and even
older children based on the appearance of muscle weakness with normal intellectual ability.

How is it diagnosed?

SMA is suspected by a patient’s history and presentation but diagnosed by genetic testing.

What is the prognosis?

The prognosis will depend on the severity (or subtype) of SMA. Infants who show symptoms of SMA will often have difficulty
with swallowing and breathing. In these children, therapies such as feeding tubes and respiratory support are necessary to
prevent death. Toddlers and young children may learn to sit and walk but may also have respiratory and swallowing difficulties
leading to a shortened life span.

What is the risk for other family members or future babies?

SMA is an inherited, autosomal recessive condition. This means that both biologic parents are carriers of the gene mutation
that causes SMA. As such, a couple’s future babies will have a 1 in 4 chance of having SMA, a 2 in 4 chance of being carriers
of SMA, and a 1 in 4 chance of not having the gene mutation or the disease. If you have concerns regarding weakness in other
children, you should ask your physician as it is possible that other children also have the condition.

What treatments/therapies/medications are recommended or available?

SMA is a complicated medical condition and currently there is no treatment for the underlying genetic cause. There are many
therapies available, however, to help with symptoms, for instance, respiratory treatments, range of motion exercises, and
help with ambulation. Your child should be seen regularly by physicians familiar with SMA.

How will my child and our family be impacted?

The degree of impact will depend on the severity of the disease. Infants with SMA will often not make it past their first
year unless they are supported with feeding tubes and assisted ventilation. Older children may have many problems including
difficulty sitting, difficulty walking, scoliosis, and respiratory or swallowing problems but usually to a lesser extent than
infants diagnosed with SMA early on.

I would like to meet other families who have a child with SMA. How can I find them?

There are several family support organizations to help you connect with other families. These include Cure SMA, SMA Support Inc., and others.

My child's doctor says she needs a cough assist device but my insurance won't pay for it. What can I do?

Contact your child's doctor and inform him or her of the denial from insurance. He/she can write a letter of medical necessity
(for information see Writing Letters of Medical Necessity) and request reconsideration. A letter from the pulmonologist may also be necessary. "Families of SMA" also has an equipment
loaning service that might be helpful. To access this service, see the website or email equipment@fsma.org.

Is there any treatment for my child with SMA? I bring him to the doctors regularly, but his condition continues to worsen.

Although there are some ongoing clinical trials and treatments possibly on the horizon, SMA is a complicated medical condition.
You might schedule a longer visit with your Medical Home provider, making it clear to the scheduler that you need a prolonged
visit to discuss your concerns.

Resources

Information & Support

Where can I go for further information?

For Parents and Patients

Support

Cure SMAOffers information about research in SMA, access to support and local chapters, and opportunities for fundraising.

SMA CoalitionA coalition of SMA-focused nonprofits working toward increased awareness and help for those with SMA.

Spinal Muscular Atrophy (GeneReviews)An expert-authored, peer-reviewed, current disease description that applies genetic testing to diagnosis and management information;
U.S. National Library of Medicine.

Genetics in Primary Care Institute (AAP)The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. Includes
health supervision guidelines and other useful resources; a collaboration among the Health Resources & Services Administration,
the Maternal and Child Health Bureau, and the American Academy of Pediatrics.